Screening Newborns For Disease Can Leave Families In Limbo : Shots - Health NewsStates screen newborns for rare genetic disorders, but increasingly those disorders don't have simple cures, if they have any cure at all. Sometimes the diagnosis isn't clear cut, either. That leaves some parents not knowing the fate of their child.

Today, in Your Health, we're taking a closer look at newborn screening. Every time a baby is born in this country, a few drops of blood from a small heel prick are sent to a lab for testing. The idea is to catch health problems that could cause death or disability without early intervention. In recent years, states have started screening for more and more diseases.

NPR's Nell Greenfieldboyce reports on mandatory testing for a disease that has no easy diagnosis or treatment.

NELL GREENFIELDBOYCE, BYLINE: For Matthew Wojtesta, it all started about a week after the birth of his daughter Vera. He was picking up his son from kindergarten when he got a phone call.

MATTHEW WOJTESTA: It was our pediatrician who called and said: So, you've been scheduled to go in and meet Dr. Kwon from Neurology. And I said: I have? And he said, yeah.

GREENFIELDBOYCE: The pediatrician explained that Vera had been flagged by New York's newborn screening program as possibly having a serious disease.

WOJTESTA: I said: Well, which one? And he was quite cagey at first.

GREENFIELDBOYCE: The doctor said you'll find out at the appointment. If I tell you now, you'll just panic. But Matthew insisted. Finally, the doctor said: Vera's blood test had shown signs that she might have Krabbe disease, a rare neurological disorder. Matthew went home, where his wife Brianne was napping. She remembers that he gently woke her up.

BRIANNE WOJTESTA: And put his hand on my knee and said, you know, honey, the doctor just called.

GREENFIELDBOYCE: That night, they got on the Internet and read and read. It was terrifying to learn what Krabbe can do to a child.

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GREENFIELDBOYCE: To understand how bad this disease can be, meet Jaylah. She lives in Harrisburg, Pennsylvania with her grammy and her pappy. She's almost two years old and has dark brown hair. She's snoozing on a couch in front of a muted TV that's showing cartoons. There's an oxygen tube in her nose, and one just like it in the nose of her stuffed animal.

ANGEL CUSTER: That is her monkey. Her monkey plays music. She sleeps with that. That gets placed in between her arms.

GREENFIELDBOYCE: Angel Custer says her granddaughter can't move her arms or legs. She can't sit up or talk. She can't even swallow her own spit. Someone has to suction it out with a tube.

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CUSTER: Do some more? No, OK.

GREENFIELDBOYCE: Jaylah seemed normal for the first few months of her life. Then she stopped taking her bottle. She started screaming in pain, nonstop.

CUSTER: She stopped smiling. She stopped laughing.

GREENFIELDBOYCE: No one knew she had Krabbe, because Pennsylvania, unlike New York, does not test newborns for this disease. It took months to figure out what was wrong. By then, it was too late for treatment. Jaylah will go deaf and blind, and then die.

CUSTER: I always said, you know, you wouldn't put your dog through that. But we've got to watch our child go through that.

GREENFIELDBOYCE: Jaylah's family says no one should suffer like this. That's why they recently brought Jaylah to the state capital, to convince lawmakers that Pennsylvania should follow New York's lead. New York was the first state to screen newborns for Krabbe.

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GREENFIELDBOYCE: Here in Albany, tiny blood samples are sent through machines.

MICHELE CAGGANA: This is the Krabbe lab.

GREENFIELDBOYCE: Michele Caggana is the director of the state's newborn screening program. She says for Krabbe, they check the level of an enzyme. If it's low, they run DNA tests. She says they've been doing this for over seven years.

CAGGANA: As of yesterday: 1,955,754 babies. So almost two million babies have been screened.

GREENFIELDBOYCE: Of those two million babies, about 300 have been picked out as possibly having Krabbe. One of them was Vera. After Brianne and Matthew Wojtesta got that phone call and read about children with Krabbe, they couldn't sleep.

WOJTESTA: The scariest part was that they are asymptomatic at the very beginning.

GREENFIELDBOYCE: Little Vera looked so healthy. But if she had Krabbe, she would immediately need a risky treatment: chemotherapy to destroy her bone marrow, then a cord blood transplant, probably at Duke University.

WOJTESTA: So we're looking at flying interstate with a brand new baby to try to do a completely radical transfusion.

GREENFIELDBOYCE: The next day's follow-up appointment was at the University of Rochester Medical Center. Neurologist Jennifer Kwon had their lab results. She told them that what was seen in Vera's DNA probably meant she was just a carrier, who did not actually have the disease.

JENNIFER KWON: I didn't think it was going to be a difficult situation at all.

GREENFIELDBOYCE: But Kwon couldn't be sure until she ran more tests. Matthew says they spent an anxious week waiting for the results.

WOJTESTA: We talked a lot. We cried. We read science.

GREENFIELDBOYCE: In the end, the tests showed Vera did not have Krabbe. Kwon says, in this case, she could be reassuring. But for other families, she can't, because the diagnosis isn't simple. This disease doesn't only hit infants. There are forms that don't appear until later in childhood, the teen years or even adulthood. When scientists run tests and find genetic mutations, it's often unclear what they mean. Kwon sometimes has to tell parents, look, we just don't know. Your child may develop some form of Krabbe.

KWON: But I can't tell you when. I can't tell what it's going to look like. I can't tell you if there's any way to prevent it. And I can't tell you that we will be able to treat it if it develops. So that's very difficult for families to hear.

GREENFIELDBOYCE: And how do they react?

KWON: They're often very angry.

GREENFIELDBOYCE: And scared. Now, as they watch their children grow up, they're haunted by the thought of this terrible disease. This has happened to dozens of families. And when the screening program does find unmistakable signs of infant Krabbe, the treatment is problematic. Five infants in New York have been candidates for cord blood transplants. One family refused. Four babies got treatment. Two of them died of complications. One child is severely neurologically impaired. And one child has had problems, but has been able to start kindergarten.

So, here is the stark question posed by Krabbe screening: To try to help a small number of children who will still face an uncertain future, is it worth putting other families in a fearful limbo for years?

Kwon says no.

KWON: No one should be screening for disorders that are this difficult.

GREENFIELDBOYCE: But some doctors do support screening. Maria Escolar is a Krabbe expert at Children's Hospital of Pittsburgh. She says even if treatment isn't perfect...

MARIA ESCOBAR: You know families develop relationships with their children no matter what degree of disability they have, they treasure each day that they are spending with their children.

GREENFIELDBOYCE: And she says, without screening, babies with Krabbe often go months without a diagnosis. That means the baby doesn't get the right drugs to ease pain, the family is desperate.

ESCOBAR: It is a terrible thing to see, and when you experience that, when you live that, that's when you realize how important newborn screening is.

GREENFIELDBOYCE: The small group of families who have lived that are the driving force behind an expansion of Krabbe screening. Missouri started last year, New Jersey and Illinois will start next year, and New Mexico has decided to do it too. The reason New York started this controversial program was because of a family -the family of Jim Kelly, a former Buffalo Bills quarterback who's in the NFL Hall of Fame. His son had Krabbe. A foundation named after him, called Hunter's Hope, wants testing in every state, even though an expert committee that advises the federal government looked at New York's results and did not recommend that.

Vera's parents, Brianne and Matthew Wojtesta, say they don't know if mandated screening is the right way to go. They personally were glad for the testing, even though Brianne also says it was traumatic, and the fear lingers.

WOJTESTA: What part of this disease do we not know, what part of the genetic composition do we not know, what about the late onset? Irrationally, I know, it still hangs over me. It's still scary.

GREENFIELDBOYCE: She says the experience has changed her. And it will forever be a part of her relationship with her daughter.

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